Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

Sander J., Janzen N., Terhardt M., Sander S., Gokcay G. F., Demirkol M., ...Daha Fazla

Clinica chimica acta; international journal of clinical chemistry, cilt.412, ss.134-8, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 412
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.cca.2010.09.027
  • Dergi Adı: Clinica chimica acta; international journal of clinical chemistry
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.134-8
  • Anahtar Kelimeler: Tyrosine, Nitisinone, NTBC, Tyrosinaemia type I, Monitoring therapy, Blood spot testing, TANDEM MASS-SPECTROMETRY, HEREDITARY TYROSINEMIA, LIVER-TRANSPLANTATION, HEPATORENAL TYROSINEMIA, AMINO-ACIDS, SUCCINYLACETONE, EXPERIENCE, 2-(2-NITRO-4-TRIFLUOROMETHYLBENZOYL)-1,3-CYCLOHEXANEDIONE, PLASMA
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM 276700).